Otofaciocervical syndrome
Other names	Fars Chlupackova syndrome
Specialty	Medical genetics
Causes	Genetic mutation
Risk factors	Depends on the type
Prevention	None
Prognosis	Bad, nearing medium
Frequency	Very rare, a total of 24 cases (from both types combined) have been reported worldwide.
Deaths	-

Otofaciocervical syndrome, also known as Fara Chlupackova syndrome, ^[1] are a small group of rare developmental disorders of genetic origin which are characterized by facial dysmorphisms, long neck, preauricular and/or branchial pits, cervical muscle hypoplasia, hearing loss, and mild intellectual disabilities. Additional findings include vertebral anomalies and short stature. ^[2]

Types

There are two types of OFC:

Otofaciocervical syndrome type 1

It is characterized by facial dysmorphisms, low-set cup-shaped ears, preauricular sinus or cyst, hearing loss, branchial and skeletal anomalies, low-set clavicle bones, winged scapulae, sloping shoulders and mild intellectual disabilities. It is caused by autosomal dominant mutations in the EYA1 gene in chromosome 8. ^[3] Only 11 cases have been reported in medical literature. ^{[4] [5] [6] [7]}

Otofaciocervical syndrome type 2

It is characterized by the same symptoms in type 1, this disorder is different from type 1 because of its genetic cause and because of its additional features: thymus development alterations with T-cell immunodeficiency and recurrent infections which may turn fatal. It is caused by autosomal recessive mutations in the PAX1 gene in chromosome 20. ^[8] Only 13 cases have been described in medical literature. ^{[9] [10] [11] [12]}

References